ABCC8 Antibody

1. Pancreatic differentiation of ABCC8-deficient cells recapitulated the congenital hyperinsulinism disease phenotype. PMID: 28600547
2. HNF1A and ABCC8 are among the most frequently mutated maturity-onset diabetes of the young genes in south India. PMID: 29439679
3. A lasso extension forms an interface between SUR1 and Kir6.2 adjacent to the ATP site in the propeller form and is disrupted in the quatrefoil form. These structures support the role of SUR1 as an ADP sensor and highlight the lasso extension as a key regulatory element in ADP's ability to override ATP inhibition. PMID: 29286281
4. Combination of heterozygous mutations in the ABCC8 and KCNJ11 genes could also lead to beta cells dysfunction presenting as congenital hyperinsulinism. PMID: 29127764
5. genetic association studies in pediatric population in Japan: Data confirm that mutations in KCNJ11 or ABCC8 are associated with neonatal diabetes mellitus. Novel mutations were identified; 2 in KCNJ11 (V64M, R201G) and 6 in ABCC8 (R216C, G832C, F1176L, A1263V, I196N, T229N). (KCNJ11 = ATP-sensitive inward rectifier potassium channel-11; ABCC8 = ATP-binding cassette subfamily C member-8) PMID: 27681997
6. report two patients with neonatal diabetes in whom we unexpectedly identified recessively inherited ABCC8 p.Glu747 loss-of-function mutations PMID: 28663158
7. In India, ABCC8 mutations were most common, with varied age of onset of diabetes, in our case series. PMID: 27496106
8. The patient carries a heterozygous mutation c.2690A>T(p.D897V) of ABCC8 gene. PMID: 28777862
9. Minor allele ABCC8 SNP genotypes have increased risk of cerebral edema, while major SNP alleles are protective in severe TBI. PMID: 27677908
10. The p.A1369S variant is associated with a significantly lower risk of type 2 diabetes (odds ratio [OR] 0.93; 95% CI 0.91, 0.95; P = 1.2 x 10(-11)). The variant is associated with increased BMI (+0.062 kg/m(2); 95% CI 0.037, 0.086; P = 8.1 x 10(-7) PMID: 28411266
11. Mutation in ABCC8 gene is associated with congenital hyperinsulinism. PMID: 28328534
12. ABCC8 mutation causing loss of function of beta-cell KATP channels lead to congenital hyperinsulinism, higher basal [Ca(2+)] i and insulin secretion, increased insulin secretion in response to amino acids but not to glucose, increased basal rate of oxygen consumption and mitochondrial mass, increased rates of glycolysis, increased serine/glycine and glutamine biosynthesis, and low gamma-aminobutyric acid (GABA) levels. PMID: 28442472
13. Hyperinsulinism-causing mutations cause multiple molecular defects in SUR1 nucleotide-binding domains. PMID: 28346775
14. Genes ABCC7, A3, A8, A12, and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels. PMID: 28468577
15. Cross-linking experiments showed that KATP channel inhibitors promoted interactions between the N terminus of Kir6.2 and SUR1, whereas channel openers did not, suggesting the inhibitors enhance intersubunit interactions to overcome channel biogenesis and trafficking defects. PMID: 27573238
16. Mutations of the ABCC8 gene is associated with congenital hyperinsulinism. PMID: 27682711
17. ABCC8 mutation is associated with neonatal diabetes mellitus and iDEND syndrome. PMID: 27849623
18. The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C member 8 (ABCC8) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH) and kcnj11 channel (KCNJ11) genes. PMID: 27181376
19. Mutations in the ABCC8 gene were the most common cause of congenital hyperinsulinism in our cohort. PMID: 26758964
20. ABCC8 mutation is associated with persistently elevated insulin concentrations. PMID: 26581065
21. A study of mutations in the ABCC8 gene that cause congenital hyperinsulinism demonstrate a clear functional distinction between SUR1 nucleotide-binding domain two (NBD2) and transmembrane domain (TMD) mutants PMID: 26092864
22. up-regulation of SUR1 in humans point to this channel as one of the important molecular players in the pathophysiology of Post-traumatic brain contusions PMID: 26398596
23. HNF1A gene mutations represented the second most frequent genetic cause of congenital hyperinsulinism of infancy in the Czech Republic PMID: 26431509
24. single amino acid difference can account for the markedly different diazoxide sensitivities between channels containing either the SUR1 or SUR2A subunit isoforms. PMID: 26181369
25. Mutations in ABCC8 are associated with neonatal diabetes mellitus. PMID: 25781672
26. First description of a homozygous p.R1419H mutation in ABCC8 in a family leading to postprandial hyperglycemia followed by hypoglycemia. PMID: 25720052
27. in a cohort of hyperinsulinemic hypoglycemia patients from Isfahan, Iran, 78% were noted to have disease-causing mutations: 48% had HADH mutations and 26% had ABCC8 mutations. PMID: 26268944
28. study investigated mutations in the KATP channel genes, allelic copy number and imprinting status at 11p15 in patients with congenital hyperinsulinism (CHI); found epigenetic alteration at the 11p15 region plays a central role in developing focal CHI by paternally derived mutations of the KATP channel and maternal allelic loss at this region PMID: 25765446
29. genome-wide association studies in population of Pima Indians in Arizona: Data suggest that R1420H loss-of-function variant in ABCC8 is associated with higher birth weights and twofold increased risk for type 2 diabetes with 7-year earlier onset age. PMID: 26246406
30. These calculations identified causal genetic variation within the ABCC8/KCNJ11 region for type 2 diabetes mellitus. PMID: 25955821
31. Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism PMID: 24814349
32. these data suggest an important role for the Sur1-Trpm4 channel in the pathophysiology of postischemic cell death PMID: 26172285
33. Paternally inherited heterozygous ABCC8/KCNJ11 mutations can manifest as a wide spectrum of congenital hyperinsulinism. PMID: 25201519
34. SUR1 alanine 1369 variant is associated with allelic susceptibility to TPP. PMID: 25143473
35. Mutations in ABCC8 can cause Transient or Permanent Neonatal Diabetes Mellitus. Diabetes secondary to mutations in ABCC8 often responds to sulfonylureas. PMID: 25456640
36. Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. PMID: 25117148
37. Activating ABCC8 mutations impaired the balance between beta and alpha cells in the patient, suggesting an effect on beta-cell mass development. PMID: 24941889
38. Homozygous mutation in the ABCC8 gene is associated with congenital hyperinsulinism. PMID: 24945427
39. Paternally inherited monoallelic mutations of ABCC8 and KCNJ11 are likely the main causes of KATP-congenital hyperinsulinism in Chinese patients. PMID: 25008049
40. after a molecular analysis of the ABCC8 gene revealed a novel heterozygous missense mutation in neonatal diabetes mellitus PMID: 24468609
41. Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. PMID: 24401662
42. Mutations in ABCC8 and KCNJ11 are common causes of CHI in Chinese patients. Mutation analysis showed more novel and monoallele mutations in KATP genes. PMID: 24434300
43. All patients were genotyped for CYP2C9, KCNJ11 and ABCC8. PMID: 24442125
44. the review summarizes the current evidence of contribution of ABC8 genetic variants to the development of Diabetes mellitus (Review) PMID: 24768178
45. This is the largest study to report genotype-phenotype correlations among Turkish patients with congenital hyperinsulinism (CHI). Mutations in ABCC8 and KCNJ11 are the commonest causes of CHI in Turkish patients (48.6%). PMID: 24686051
46. Octreotide-induced long QT syndrome in a child with congenital hyperinsulinemia and a novel missense mutation (p.Met115Val) in the ABCC8 gene PMID: 24080777
47. Homozygous mutations in ABCC8 are the most common causes of CHI in Saudi patients PMID: 24145932
48. Forty-one case-control association studies of KCNJ11 and ABCC8 polymorphisms with type 2 diabetes, including 61,879 subjects, were identified and used in our meta-analysis PMID: 24065655
49. molecular analysis of the ABCC8 gene revealed a heterozygous mutation (p.Arg837X) in a newborn with hyperinsulinism and also in his 29-year-old asymptomatic father PMID: 23301914
50. We found three missense homozygous mutations in the ABCC8 coding region of patients with congenital hyperinsulinism of infancy. One mutation is novel (G1554D, whereas R526C and P1413L mutation have been previously described as causative PMID: 23652837

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HGNC: 59

OMIM: 240800

KEGG: hsa:6833

STRING: 9606.ENSP00000374467

UniGene: Hs.54470